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FLASH GENE

Symbol

PDILT

contributors: mct/npt - updated : 10-12-2013

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_174924 12 - 2195 NP_777584 66 584 - 2005 15475357

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Reproductive male system testis       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Reproductive spermatocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal

Text	ubiquitously expressed during development

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

two thioredoxin domains

conjugated

GlycoP

mono polymer

homomer , dimer

HOMOLOGY

Homologene

FAMILY

protein disulfide isomerase family

CATEGORY

chaperone/stress

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum

basic FUNCTION	having specialized chaperone function in testicular cells
	catalyzing the rearrangement of -s-s- bonds in proteins
	first eukaryotic SXXC protein to be characterized in the ER
	ER resident glycoprotein that liaises with partner proteins in disulfide-dependent complexes within the testis
	induced during puberty and represents the first example of a PDI family member under developmental control

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

forms a tissue-specific chaperone complex with the calnexin homologue calmegin (CLGN)

INTERACTION

DNA

RNA

small molecule

protein	interacts with the oxidoreductase ERO1L, demonstrating that the N-terminal cysteine of the CXXC sequence is not required for binding of PDI family proteins to ER oxidoreductases
	cooperates with CALR3, in the endoplasmic reticulum and plays an indispensable role in the disulfide-bond formation and folding of ADAM3A

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Pdilt-/- mice were male infertile because Adam3 could not be folded properly and transported to the sperm surface without the Pdilt/Calr3 complex